Barreto S, Gómez C, Menéndez P, Grosso S, Altadill A, Cannata J B
Unidad de Metabolismo Oseo y Mineral, Hospital Central de Asturias.
Med Clin (Barc). 1996 Oct 12;107(12):464-6.
Three adult members of the same family with hypophosphatasia are described. Two of them, aged 23 and 24 yr, developed vertebral and peripheral fractures having low bone mass values and histological findings of trabecular and cortical osteoporosis with mild mineralization defects. In these two cases, the corticosteroid treatment received may have play role in the development of the symptomatic clinical picture because the third affected member of the family did not have bone mass abnormalities suffering only from early loss of teeth. Even though adult hypophosphatasia is a rare and oligosymptomatic disease, some risk factors may induce the development of osteoporosis with bone fractures.
本文描述了同一家庭中的三名成年低磷性骨软化症患者。其中两名患者,年龄分别为23岁和24岁,出现了椎体和外周骨折,骨量值较低,组织学检查结果显示小梁和皮质骨骨质疏松,并伴有轻度矿化缺陷。在这两例病例中,所接受的皮质类固醇治疗可能在症状性临床表现的发展中起到了作用,因为该家庭中第三名受影响成员没有骨量异常,仅患有早期牙齿脱落。尽管成人低磷性骨软化症是一种罕见且症状较少的疾病,但一些危险因素可能会诱发骨质疏松症并导致骨折。